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199 Cards in this Set
- Front
- Back
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What are the 4 trinucleotide repeat diseases?
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1. Huntington's (CAG)
2. Myotonic dystropy (CTG) 3. Fragile X Syndrome (CGC) 4. Friedrich's ataxia (GAA) |
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CAG trinucleotide repeats
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Huntington's
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CTG trinucleotide repeats
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MyoTonic dystrophy
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Fragile X syndrome
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CGG
FraGile X syndrome |
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GAA trinucleotide repeat
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Friedrich's Ataxia
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MR, rocker bottom feet, micrognathia (small jaw), low-set ears, clenched hands, prominent occiput and congenital heart disease
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Edward's syndrome
Trisomy 18 |
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Cleft lip/palate, holoprosencephaly, polydactyly
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Patau's
Trisomy 13 |
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MR, hypercalcemia, "elfin facies,' well-developed verbal skills, extreme friendliness, cardiovascular problems
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William's syndrome
microdeletion of long arm (q) of chromosome 7- deletion of elastin gene |
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What is the difference between DiGeorge's syndrome and Velocardiofacial?
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DiGeorge has thymic and parathyroid abnormalities
BOTH are 22q11 deletions 3rd and 4th pharyngeal arches CATCH-22 - cleft palate, abnormal facies, thymic aplasia, cardiac defects, hypocalcemia |
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Fat soluble vitamins?
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A, D, E, K
- ileum and pancreas needed for absorption |
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Which of the water soluble vitamins are stored in the liver?
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1. B12
2. Folate |
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Deficiency of this vitamin results in night blindness and dry skin.
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Vitamin A
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Which vitamin is teratogenic in excess?
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Vitamin A- stop isotretinoin before pregnancy
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What are the symptoms of dry beri beri?
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thiamine (B1) deficiency
- polyneuritis, symmetrical muscle wasting |
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a patient might call these sun spots
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actinic keratosis
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What enzymes is TPP a cofactor for?
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TPP= thiamine phyrophosphate
1. Pyruvate dehydrogenase (glycolysis) 2. alpha-ketoglutarate dehydrogenase (TCA cycle) 3. Transketolase (HMP shunt) 4. Branched-chain AA dehydrogenase |
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What is the cause of Wernicke-Korsakoff?
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Thiamine deficiency --> impaired glucose breakdown --> ATP depletion
- confusion, ataxia, memory loss, confabulation, personality change |
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Cofactor for FADH2
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Vitamin B2 (riboflavin)
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Deficiency of vitamin B2
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Riboflavin
2Cs 1. Cheilosis- inflammation of lips, scaling and fissure at corners of the mouth) 2. Corneal vascularization |
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Constituent of NAD+, NADP+ (redox reactions)
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Vitamin B3 (niacin)
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Vitamin that is derived from tryptophan
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Niacin (B3)
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Hartnup's disease?
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decreased tryptophan absorption- decrease niacin
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Pellagra
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Niacin deficiency
3Ds: 1. Diarrhea 2. Dementia 3. Dermatitis Can get it from eating untreated corn |
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Vitamin that needs B6 for synthesis?
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Niacin
- INH and OCPs--> decrease B6 (pyridoxine) |
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Malignant carcinoid syndrome leads to what vitamin deficiency?
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Niacin (B3)
- increases tryptophan metabolism needed to make niacin |
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Essential componenet of CoA
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Vit B5- panthothenate
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Deficiency leads to dermatitis, enteritis, alopecia, adrenal insufficiency
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Vit B5- panthothenate
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Treatment with INH leads to which vitamin deficiencies?
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Vit B6- pyridoxine
and therefore also B3-niacin |
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cofactor for ALT, AST, glycogen phosphorylase and decarboxylase enzymes
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B6- pyridoxine
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Deficiency symptoms- convulsion, hyperirritability, peripheral neuropathy, sideroblastic anemia
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B6- pyridoxine
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Cofactor for homocysteine methyltransferase
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B12 (cobalamin)
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B12 deficiency leads to...
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elevated
Homocysteine and Methylmalonyl CoA Methymalonyl CoA --> Succinyl CoA usually |
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The Schilling test is used to diagnose what deficiency?
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Intrinsic factor deficiency --> B12 deficiency
- pernicious anemia - gastric bypass |
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macrocytic, megaloblastic anemia with hypersegmented polys?
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B12 (cobalamin)
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Important for the synthesis of the nitrogenous bases.
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Folic acid --> tetrahydrofolate
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Drugs that cause folic acid deficiency?
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phenytoin, sulfonamides, MTX
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Folic acid deficiency differences from B12 deficiency?
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Folic acid- normal methymalonic acid, NO neurologic symptoms
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Infection with Diphyllobothrium latum can cause which vitamin deficiency?
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B12
- tape worm - Trasmitted by ingesting larvae in raw freshwater fish |
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Needed in NorEpi --> Epi and Methionine --> Homocysteine
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S-adenyl methionine (SAM)
- ATP + methionine - need folate and B12 for methionine and therefore for SAM |
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Cofactor for carboxylation enzymes
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Biotin
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Excessive ingestion of eggs or antibiotic use causes this vitamin deficiency
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Biotin
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Vitamin C functions
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1. Antioxidant
2. Facilitates iron absorption by keeping iron in Fe2+ reduced state 3. Necessary for hydroxylation of proline and lysine in collagen synthesis 4. Necessary for dopamine beta-hydroxylase- converts dopamine to NE |
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Deficiency of this vitamin causes hemolytic anemia, muscle weakness and neurodysfunction
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Vitamin E
- usually an antioxidant |
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vitamin K dependent coag factors
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II, VII, IX, X, protein C and S
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vit K deficiency leads to what changes in coag tests
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increased PT and PTT
Normal bleeding time |
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Deficiency of this vitamin leads to taste dysfunction (dysgeusia), decreased sense of smell (anosmia), delayed wound healing, decreased adult hair and hypogonadism
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Zinc
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Fomepizole
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inhibits ADH
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why do alcoholics block FA oxidation?
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increased NADH/NAD ratio
- diversion of pyruvate to lactate - OAA to malate --> gluconeogenesis inhibited, FA synthesis stimulated --> hypoglycemia, hepatic fatty liver -reactions done to regenerate NAD+ |
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Kwashiorkor
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Malnutrition
Edema Anemia Liver (fatty) - protein malnutrition |
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Marasmus
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energy malnutrition
- muscle wasting - decreased sub q fat |
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cherry red spots in retina
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Tay-Sachs- frameshift mutation
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mycoses fungoides
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malignant T cell lymphoma
- cutaneous |
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stop and start codons?
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stop: UGA, UAG, UAA
start: AUG |
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Rate determining enzyme in glycolysis
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PFK-1
Fructose-6-phosphate --> F-1,6-P |
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Rate determining enzyme in gluconeogenesis
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F-1,6-bisphosphatase
F-1,6-P --> F-6-P |
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Rate determining enzyme in TCA cycle
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isocitrate dehydrogenase
isocitrate --> alpha-ketoglutarate |
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Rate determining enzyme in HMP shunt?
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G6PD
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Rate determining enzyme of de novo pyrimidine synthesis
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Carbamoyl phosphate synthetase II
CPSI- urea cycle |
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Rate determining enzyme in de novo purine synthesis
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Glutamine PRPP amidotransferase
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Rate determining enzyme in urea cycle
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Carbamoyl phosphate synthetase I (NH4+ --> carbamoyl phosphate)
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Rate determining enzyme in fatty acid synthesis
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Acetyl-CoA carboxylase (ACC)
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Rate determining enzyme in fatty acid oxidation
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Carnitine acyltransferase I
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Rate determining enzyme in ketogenesis
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HMG-CoA synthase
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How many ATP are generated during aerobic glycosis in the heart?
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32- malate-aspartate shuttle
30 in skeletal muscle (glycerol-3-phosphate shuttle) |
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hexokinase
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- everywhere
- low Km, low Vmax - uninduced by insulin - feedback inhibited by G-6-P |
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glucokinase
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Liver and beta cells of pancrease
- high Km (low affinity) - high Vmax - induced by insulin - No direct feedback inhibition - Phosphorylates excess glucose to sequester in the liver |
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glycolytic enzyme deficiency in RBCs
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hemolytic anemia because RBCs do not have mitochondria so rely on glycolysis
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Only purely ketogenic amino acids
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Lysine and Leucine
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Pyruvate dehydrogenase deficiency
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- in alcoholics from B1 deficiency
- backup of substrates (pyruvate and alanine) --> lactic acidosis |
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Four different way that pyruvate can go
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Lactate
Alanine- carries amino groups from liver to muscle Oxaloacetate- TCA or gluconeogenesis Acetyl CoA |
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Cori cycle
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Lactate from muscles --> liver --> turns to glucose
Costs 4 ATP (2 lactate/glucose) |
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Rotenone- effect on electron transport chain?
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directly inhibits electron transport --> decreased proton gradient
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CN- effect on electron transport chain?
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directly inhibits electron transport --> decreased proton gradient
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CO- effect on electron transport chain?
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Directly inhibits electron transport -->decreased proton gradient
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Oligomycin- effect on electron transport chain?
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ATPase inhibitor- increased proton gradient, no ATP produced
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Uncoupling agents?
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2,4-DNP
Aspirin |
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Why can't muscles participate in gluconeogenesis
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No glucose-6-phosphatase
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Why can't even chain FAs produce new glucose?
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only yield acetyl-CoA
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Purpose of the HMP shunt
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1. NADPH production
2. ribose for nucleotide synthesis Oxidative and nonoxidative phases both in cytoplasm |
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Oxidative phase of HMP shunt?
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- irreversible
- G6PD Glucose-6-P --> 6-phosphogluconolactone --> ribulose-5-P + 2 NADPH + CO2 |
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Nonoxidative phase of HMP shunt?
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Transketolase (requires thiamine)
Ribulose-5-P --> Ribulose-6-P, G3P, F6P |
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Weapon in WBCs of patients with CGD
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use H2O2 from invading organisms --> ROIs
- High risk for infection by catalase positive species (staph aureus, aspergillus)- neutralize own H2O2 |
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NADPH role
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reduces glutathione reduced --> detoxifies free radicals and peroxides
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Fructose intolerance
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Aldolase B deficiency (2nd enzyme)
- autosomal recessive - F-1-P accumulates --> decreased available phosphate --> inhibition of glycogenolysis and gluconeogenesis -> hypoglycemia, jaundice, cirrhosis, vomiting |
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Essential fructosuria
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Fructokinase deficiency
- autosomal recessive - benign - Fructose DOES NOT enter cells - Fructose in urine |
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Classic galactosemia
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Galactose-1-phosphate uridyltransferase deficiency (2nd enzyme)
- autosomal recessive - Galactitol accumulation --> lens of eye --> INFANTILE CATARACTS Sx: failure to thrive, jaundice, hepatosplenomegaly, infantile cataracts, MR |
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Galactokinase deficiency
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1st enzyme in pathway
- autosomal recessive - mild - galactitol accumulates if galactose in diet Sx: failure to track objects or develop social smile, galactose in blood and urine, infantile cataracts |
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Aldose reductase
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converts
galactose --> galactitol glucose --> sorbitol (trapped in cell) |
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cells that have sorbitol dehydrogenase
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liver, ovaries, seminal vesicles
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Cells with only aldose reductase to convert glucose to sorbitol
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schwann cells, lens, retina, kidneys- sorbitol accumulates
- osmotic pressure --> water enters cell --> damage - cataracts, retinopathy, peripheral neuropathy * Chronic diabetes |
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Effect of converting sugar to its alcohol
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Trapped in cell - osmotic damage
- galactitol - sorbitol - fructol? |
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Glucogenic amino acids
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Met, Val, Arg, His
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Glucogenic/ketogenic amino acids
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Ile, Phe, Thr, Trp
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Essential AAs
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Met, Val, Arg, His
Ile, Phe, Thr, Trp Leu, Lys |
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components of urea
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NH2- from NH4+
C--O from CO2 NH2 from aspartate |
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Transport of ammonium from muscle to liver?
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Alanine (with NH3)--> pyruvate
alpha-ketoglutarate --> glutamate (NH3) --> urea |
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Hyperammonemia - metabolic effect?
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Depletes alpha-ketoglutarate --> inhibition of TCA
Tx: benzoate or phenylbutyrate -- bind AAs --> excretion --> less ammonia |
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Orotic acid in blood and urine, decreased BUN
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Ornithine transcarbamoylase deficiencty (OTC)
- 1st enzyme in urea cycle - X-linked recessive - Cannot eliminate ammonia Carbamoyl phosphate --> orotic acid (part of pyrimidine synthesis pathway) |
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Phenylalanine is the source for which amino acid, neurotransmitter and catecholamines?
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Tyrosine
Dopa, Dopamine NE, Epi (Melanin, Thyroxine) |
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Serotonin and Niacin come from which precursor?
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Tryptophan
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Porphyrin and heme come from which AA precursor
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Glycine
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Creatinine, urea and NO from which common precursor
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Arginine
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Glutamate produces
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GABA
Glutathione |
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AAs synthesized from Glucose
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Ala, Gly, Pro, Ser
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Rate limiting step in catecholamine synthesis
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Tyrosine hydroylase
Tyrosine --> DOPA |
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Dopamine --> NE
requires? |
Vit C
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Phenylketonuria
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Phenylalanine hydroxylase deficiency or THB cofactor
Tx: no Phe in diet, increase Tyr in diet (becomes an essential AA) Phenylketones - musty body odor - disorder of aromatic AAs - autosomal recessive |
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Urine turns black on standing
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Alkaptonuria (ochronosis)
- Defect in Tyr degradative pathway - homogentisic acid oxidase deficiency - autosomal recessive - dark connective tissue, pigmented sclera, debilitating arthralgias |
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Cause of albinism
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Melanin from tyrosine
- Tyrosinase deficiency (autosomal recessive) OR - Defective Tyrosine transporters *Lack of migration of neural crest cells? |
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Cystinuria
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Defect of renal tubular AA transporter of cystine, ornithine, lysine and arginine (PCT of kidney)
- Excess cystine in urine --> cystine staghorn canaliculi |
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Maple Syrup Disease
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Blocked degradation of branched AAs
- Ile, Leu, Val - From decreased alpha-ketoacid dehydrogenase --> increased alpha ketoacids in blood - CNS defect, MR, death - Urine smells like maple syrup "I Love Vermont maple syrup from maple trees (branches" |
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Hartnup disease
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Defective neutral AA transporter on renal and intestinal epithelial cells
- Tryptophan excretion in urine, decreased absorption --> decrease niacin --> pellagra! PELLAGRA - dementia, dermititis, diarrhea |
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Glycogenolysis is promoted by which signal?
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Glucagon and Epi- phosphorylates and activates glycogen phosphorylase kinase (via cAMP and PKA)
---> Activates Glycogen phosphorylase |
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Activity of Glycogen phosphorylase
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- removes up to 4 glucose residues left on a branch
- Debranching enzyme needed for remaining four |
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What form is glucose in when it comes off of straight chain glycogen? branched glycogen?
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Glucose-1-phosphate
Glucose-6-phosphate phosphoglucomutase converts between the two G-6-P --> Glucose via G-6-phosphatase |
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Small amount of glycogen is degraded in lysosomes by...
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Lysosomal alpha-1,4 glucosidase
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Glycogen storage diseases
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Very Poor Carbohydrate Metabolism
Von Gierke's (Type I)- no glucose-6-phosphatase Pompe's Disease (Type II) - no Lysosomal alpha-1,4-glucosidase Cori's Disease (Type III)- No debranching enzyme McArdle's Disease (Type V)- No glycogen phosphorylase in muscle |
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Symptoms of Von Gierke's Disease
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No Glucose-6-Phosphatase
- Fasting hypoglycemia - Increased glycogen in Liver - Increase blood lactate - Hepatomegaly |
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Pompe's Disease Sx
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No Lysosomal alpha-1,4-glucosidase
- Cardiomegaly - Early death "Pompe's trashes the Pump (heart, liver, muscle)" |
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Cori's Disease sx
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No Debranched Enzyme
- milder form of Von Gierke's - Lactate levels not increased - Gluconeogenesis intact |
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McArdle's Disease Sx
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No glycogen phosphorylase in skeletal muscle
- Increased glycogen in muscle but cannot break it down - painful muscle cramps, myoglobinuria with strenuous exercise |
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Fabry's disease
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Deficient: Alpha glactosidase A
Accumulated: Ceramide trihexoside XR Sx: - peripheral neuropathy - angiokeratomas - cutaneous lesions of capillaries (blue to red) - cardiovascular/renal disease |
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Gaucher's disease
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Most common
Deficient: B-glucocerebrosidase Accumulation: glucocerebroside AR Sx: - Hepatosplenomegaly - aseptic necrosis of femur - bone crisis - Gaucher's cells- macrophages that looked like crumpled tissue paper |
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Niemann-Pick disease
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Deficient: sphingomyelinase
Accumulation: sphyingomyelin AR Sx: - Progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula -foam cells "No man picks his nose with his sphinger" |
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Tay-Sachs disease
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Deficient: Hexosaminidase A
Accumulation: GM2 ganglioside AR Sx: - Progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO HEPATOSPLENOMEGALY *Ashkenazi Jews "Tay-SaX"- heXosamindase |
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Krabbe's disease
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Deficient: galactocerebrosidase
Accumulation: galactocerebroside AR Sx: - Peripheral neuropathy - Developmental delay - Optic atrophy - Globoid cells *Effects myelin sheath |
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Metachromatic Leukodystrophy
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Deficient: Arylsuflatase A
Accumulate: Cerebroside Sulfate AR Sx: - Central and peripheral demyelination with ataxia - dementia *Affects myelin sheath |
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Only X-linked recessive sphingolipid disease
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Fabry's disease (alpha galactosidase deficient)
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sphingolipid disease with bone crises
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Gaucher's disease
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Difference between Niemann-Pick and Tay-Sachs disease symptoms
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Tay-Sachs has NO hepatosplenomegaly
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sphingolipid diseases- cherry red spot on macula?
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Niemann-Pick
Tay Sachs |
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sphingolipid disease with renal involvement
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Fabry's
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Substance in accumulated in mucopolysaccharidoses
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Heparan sulfate, dermatan sulfate
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X-linked recessive mucopolysaccharidoses
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Hunter's syndrome
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Hurler's syndrome
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Deficient: alpha-L-iduronidase
accumulate: heparan sulfate, dermatan sulfate AR Sx: - Developmental delay - GARGOYLISM - Airway obstruction - corneal clouding - hepatosplenomegaly |
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Hunter's syndrome
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Deficient: Iduronate sulfatase
Accumulate: Heparan sulfate, dermatan sulfate XR Sx: - Mild Hurler's - Aggressive behavior - No corneal clouding |
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Difference between Hurler's and Hunter's
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Hunter's is
- XR - more mild - aggressive behavior - No corneal clouding |
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Carnitine shuttle
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Acyl CoA from cyto - mito in FA oxidation
- negatively regulated by malonyl Co-A |
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Carnitine deficiency
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Cannot transfer acyl CoA from cyto to mito for FA oxidation
- hypoketotic, hypoglycemic |
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Long Chain Acyl CoA dehydrogenase (LCAD) deficiency
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- muscle weakness
- cardiomyopathy - fasting hypoglycemia - hypoketosis *blocks FA oxidation |
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1 g protein = ? kcal
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4 kcal
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1g fat = ? kcal
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9 kcal
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degrades TG in adipocytes
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hormone-sensitive lipase
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degrades TG in chylomicrons and VLDLs
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Lipoprotein lipase
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Degrades TG and IDL in liver
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Hepatic TG lipase
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LCAT (lecithin-cholesterol acyltransferase)
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Catalyzes esterification of cholesterol
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CETP (cholesterol ester transfer protein)
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cholesterol esters --> lipoprotein particles
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apoA1
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activates LCAT (esterification of cholesterol)
- HDL |
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apoB100
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binds LDL receptor, mediates VLDL secretion
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apoC-II
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cofactor for lipoprotein lipase
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apoB-48
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Mediates chylomicron secretion
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apoE
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mediates Extra remnant uptake
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Apolipoproteins on a chylomicron
|
B-48
A-IV C-II E |
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apolipoproteins on LDL
|
B-100
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Apolipoprotiens on VLDL
|
B-100, CII, E
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Familial hypercholesterolemia
|
Increased LDL
- Autosomal dominant - absent or decreased LDL receptors |
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Hyperchylomicronemia
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- Increased chylomicrons
- Elevated TG, Cholesterol LPL deficiency or altered C-II Sx: heptosplenomegaly, eruptive/pruritic xanthomas |
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H1
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only histone not in the histone core- keeps beads together
|
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TMP vs MTX
|
Both inhibit dihydrofolate reductase
- TMP- in bacteria |
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Orotic aciduria vs. OTC deficiency
|
OTC- hyperammonemia
Orotic aciduria- high orotic acid from downstream enzyme deficiency - can still produce urea - megaloblastic anemia - doesn't improve with B12 or folic acid tx: oral uridine |
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Megaloblastic anemia that does not respond to B12 or folate
|
Orotic aciduria
- defect in pyrimidine synthesis pathway |
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Lesch Nyhan syndrome genetics
|
X linked recessive
|
|
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DNA Pol 1 exonuclease
|
3' --> 5' AND 5'-->3' (removes RNA primer)
prokaryotic |
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DNA Pol III exonuclease
|
3' --> 5'
prokaryotic |
|
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SLE and mRNA splicing
|
antibodies to snRNPs- defective spliceosome
|
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|
I cell disease
|
"inclusion cell" disease
- No mannose-6-phosphate addition to lysosomal proteins --> enzymes secreted outside of cell Sx: - coarse facial features - clouded corneas - restricted joint movements - high plasma lysosomal enzymes - fatal in childhood |
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Osteogenesis imperfecta genetics
|
Autosomal dominant
|
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Alport's syndrome
|
- kidney
- eyes - ears - abnormal type IV collagen - mostly X linked recessive |
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3 disorders that cause marfanoid habitus
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Marfan's
MEN 2B homocystinuria *locus heterogeneity- mutations in different loci can produce the sam phenotype |
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heteroplasmy
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presence of both normal and mutated mtDNA --> variable expression in mitochondrial inherited disease
|
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Hereditary hemorrhagic telangiectasia
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Osler-Weber-Rendu syndrome
- Autosomal Dominant - disorder of blood vessels Sx: - telangiectasia - recurrent epistaxis - skin discolorations - arteriovenous malformations |
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bilateral acoustic neuroma
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NF2 - DOMINANT
- chromosome 22 - juvenile cataracts |
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cafe-au-lait spots, lisch nodules, scoliosis, pheochromocytoma
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NF-1 - DOMINANT
ch 17 von Recklinghausen's - neural tumors - optic pathway gliomas |
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MEN genetics
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Autosomal dominant
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bilateral renal cell carcinoma
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von Hippel-Lindau disease - DOMINANT
- ch 3- VHL gene --> constitutive HIF --> angiogenic factors - hemangioblastomas of retina/cerebellum/medulla |
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ash leaf spots- hyopigmented
cortical and renal hamartomas - facial lesions (adenoma sebaceum) |
Tuberous Sclerosis- DOMINANT, incomplete penetrance, variable presentation
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Tx in CF for mucous plugs
|
N-acetylcysteine
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Which two enzymes require lipoic acid as cofactors
|
1. PDH
2. alpha-ketoglutarate dehydrogenase 3. alpha ketoacid dehydrogenase that break down branched chain amino acids |
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Treatment for maple syrup urine disease
|
Some respond to thiamine since it is a cofactor for the enzyme that breaks down branched chain amino acids
|
|
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Pantothenic acid deficiency
|
vit B5
- coenzyme A - TCA cycle, FA oxidation, acetylation, cholesterol synthesis Sx: paresthesias, dyseasthesias, GI distress |
|
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riboflavin- participation in enzymes?
|
FAD- TCA enzymes like succinate dehydrogenase
|
|
|
Treatment for Hartnups disease
|
niacin
- Less tryptophan is reabsorbed, which is need for niacin production |
|
|
Primary way of metabolizing fructose in fructokinase deficiency
|
Hexokinase --> fructose-6-phosphate
|
|
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homeobox codes for...
|
txn factor
|
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HbS mutation
|
mutation to valine- hydrophobic
- causes polymerization of heme molecules |
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mutations in thalassemmia
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result in mRNA not being transcribe --> no alpha or beta chains
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glucose regulation in lac operon
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decreased cAMP --> CAP binding
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branched amino acids
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valine, leucine, isoleucine
- proponyl acid |
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vitamin given for measles
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Vitamin A
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In folic acid deficiency what can you give to decrease apoptosis of rbcs?
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thymidine- helps in DHF synthesis
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Two conditions that result in urine turning dark upon standing
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1. Acute Intermittent porphyria (porphobilinogen deaminase deficiency)
2. Alkaptonuria - deficiency of homogentisic acid oxidase - degradative pathway of tyrosine |
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conditions for rbc sickling
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1. low pH
2. high 2,3 DPG 3. anoxia glu --> valine mutation |
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location of T3/T4 hormone receptor
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nucleus
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Signal through JAK/STAT pathway
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GH
Interferon |
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necrosis of mamillary bodies
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thiamine deficiency
-Wernicke's |
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Insulin resistance- molecular
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phosphorylate Serine residues instead of tyrosine on TRK receptor
- TNF, catecholamines etc |
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metabolism of very long chain fatty acids
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peroxisomes
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glycerol kinase in liver
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glycerol --> DHAP
- glycolysis or gluconeogenesis |
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TYK receptors without intrinsic activity?
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JAK/STAT pathway
- cytokines, GH, prolactin, IL-2 |
